keyword
https://read.qxmd.com/read/37586674/fret-based-probe-for-ratiometric-detection-and-imaging-of-folic-acid-in-real-time
#21
JOURNAL ARTICLE
Irfan, Neha Soleja, Mohd Mohsin
Inadequate folic acid intake is linked to diseases such as megaloblastic anemia, neural tube defects, and hyperhomocysteinemia, increasing the risk of vascular disease and thrombosis. Folic acid, a cofactor in various enzymes, can be produced by plants and bacteria, but not by humans and other animals. L-5-methyl-tetrahydrofolate (L-5-methyl-THF) is the primary dietary folate form, transported in circulation for cellular metabolism. Traditional methods of determining folic acid levels are unreliable and time-consuming...
August 14, 2023: Analytical Biochemistry
https://read.qxmd.com/read/37554579/vitamin-b12-deficiency-in-an-infant-with-neurological-and-hematological-findings-a-case-report
#22
Niraj Kumar Sharma, Madhur Bhattarai, Kushal Baral, Susmita Poudel, Nusaiba Farouk Hassan, Tulsi Ram Dhakal, Rituraj Baral
KEY CLINICAL MESSAGE: It is important for pregnant and breastfeeding women who adhere to a strict vegetarian diet to take appropriate steps to avoid vitamin B12 deficiency in their infants. ABSTRACT: Vitamin B12 deficiency is rare during infancy. The initial symptoms of this deficiency are subtle and may include irritability, failure to thrive with a decline in growth rate, apathy, anorexia, refusal of solid foods, megaloblastic anemia, and developmental regression...
August 2023: Clinical Case Reports
https://read.qxmd.com/read/37551478/-expression-and-clinical-significance-of-cytokines-and-lymphocyte-subsets-in-patients-with-diffuse-large-b-cell-lymphoma
#23
JOURNAL ARTICLE
Yu Xie, Hong-Yu Bao, Xiao-Feng Shi, Jian-Ning Wang, Xue Han, Qing-Qi Meng, Su-Yu Jiang, Lu Zhang, Liu-Bo Zhang, Wan-Ru Chen, Xin-Di Zou
OBJECTIVE: To study the role of cytokines and lymphocyte subsets in the diagnosis, prognosis and efficacy evaluation of DLBCL patients, and the effects of Tislelizumab on immune function and cytokines in DLBCL patients. METHODS: Twenty-three patients with newly diagnosed DLBCL were selected as DLBCL group and 34 patients with megaloblastic anemia as the control group. The levels of peripheral blood cytokines IL-2, IL-4, IL-6, IL-10, TNF- α and IFN-γ by ELISA method...
2023: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://read.qxmd.com/read/37474506/computational-analysis-of-peripheral-blood-smears-detects-disease-associated-cytomorphologies
#24
JOURNAL ARTICLE
José Guilherme de Almeida, Emma Gudgin, Martin Besser, William G Dunn, Jonathan Cooper, Torsten Haferlach, George S Vassiliou, Moritz Gerstung
Many hematological diseases are characterized by altered abundance and morphology of blood cells and their progenitors. Myelodysplastic syndromes (MDS), for example, are a group of blood cancers characterised by cytopenias, dysplasia of hematopoietic cells and blast expansion. Examination of peripheral blood slides (PBS) in MDS often reveals changes such as abnormal granulocyte lobulation or granularity and altered red blood cell (RBC) morphology; however, some of these features are shared with conditions such as haematinic deficiency anemias...
July 20, 2023: Nature Communications
https://read.qxmd.com/read/37435265/combined-presentation-of-acute-confusion-and-severe-pancytopenia-in-vitamin-b12-deficiency
#25
Fatima Ghazal, Michelle Zur, Aaron Silver
Vitamin B12 deficiency is more prevalent in the elderly and can develop as a result of malnutrition, malabsorption, chronic alcoholism, and chronic use of common medications (e.g. metformin, PPI, methotrexate) along with other causes. A wide spectrum of hematological and neuropsychiatric manifestations exist with the most common being Megaloblastic anemia and subacute combined degeneration, respectively. The mechanisms leading to the manifestations specific to these two organ systems are thought to be different...
June 2023: Curēus
https://read.qxmd.com/read/37404443/psychosis-and-seizures-attributed-to-severe-vitamin-b12-deficiency-a-case-report
#26
Shellsea Portillo, Nehemias A Guevara, Garry Francis-Morel
Vitamin B12 deficiency is known to cause a variety of symptoms, including megaloblastic anemia, glossitis, and neuropsychiatric disorders. This case report describes a patient who presented with cognitive decline, psychosis, and seizures due to a severe vitamin B12 deficiency. Following treatment with vitamin supplementation therapy, the patient's condition significantly improved. The literature has also documented similar neuropsychiatric manifestations of vitamin B12 deficiency, highlighting the potential for symptom reversal with prompt and appropriate treatment...
June 2023: Curēus
https://read.qxmd.com/read/37390397/anemia-macrocytic-anemia
#27
JOURNAL ARTICLE
Denise Zwahlen
Macrocytic anemia is divided into megaloblastic and nonmegaloblastic causes, with the former being more common. Megaloblastic anemia results from impaired DNA synthesis, leading to release of megaloblasts, which are large nucleated red blood cell precursors with chromatin that is not condensed. Vitamin B12 deficiency is the most common cause for megaloblastic anemia, although folate deficiency also can contribute. Nonmegaloblastic anemia entails normal DNA synthesis and typically is caused by chronic liver dysfunction, hypothyroidism, alcohol use disorder, or myelodysplastic disorders...
July 2023: FP Essentials
https://read.qxmd.com/read/37356947/-causes-of-abnormal-hemoglobin-electrophoresis
#28
JOURNAL ARTICLE
Xue-Li Pang, Hong-Fei DU, Yan Yang, Xiao-Ping Zhou, Ning Tang, Jia-Wei Liu, Ying Xu
OBJECTIVE: To investigate the possible causes of abnormal hemoglobin electrophoresis results. METHODS: The hemoglobin electrophoresis results of 5 696 patients in the First Affiliated Hospital of Chengdu Medical College from September 2018 to July 2021 were collected, and the abnormal results and clinical significance were analyzed. RESULTS: The results of 486 patients (accounting for 8.53%) were abnormal, of which 300 cases had increased HbA2, 135 cases had decreased HbA2, 44 cases had increased F alone, and 7 cases had abnormal hemoglobin bands...
June 2023: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://read.qxmd.com/read/37355823/clinico-laboratory-profile-and-outcomes-of-megaloblastic-anemia-presenting-as-severe-pyrexial-illness-mimicking-tropical-infection
#29
JOURNAL ARTICLE
Vineet Behera, Rajiv Kumar, Chaturbhuj Agrawal, Rajan Kapoor, Navjyot Kaur, Velu Nair
BACKGROUND: Anemia-causing fever has been described in patients with megaloblastic anemia. Although the exact mechanism of this is unknown, high-grade fever is relatively less reported. MATERIALS AND METHODS: This prospective observational study included all new cases of megaloblastic anemia presenting with febrile illness (>101°F) during a 3-year period. Patients with existing anemia, comorbidities, and other causes of macrocytosis were excluded. A detailed evaluation for megaloblastic anemia and workup for excluding tropical infections was done...
May 2023: Journal of the Association of Physicians of India
https://read.qxmd.com/read/37354504/thrombocytopenia-in-children-a-large-prospective-study-on-clinical-manifestations-seasonal-variation-etiology-and-outcome
#30
JOURNAL ARTICLE
Isha Bhatia, Avinash Sharma, Sandesh Guleria, Ajay Sharma, Ranbir S Jaswal, Ajay Vaid, Neha Rehalia, Amar Thakur
To study the clinico-etiological profile of children with thrombocytopeniaMethods: This prospective hospital-based study included all children (<18 years) with thrombocytopenia at the time of hospitalization and/or thrombocytopenia during the course of their hospital stay. A detailed history was recorded and appropriate laboratory investigations were carried out Results: The study group comprised 246 children (mean age, 9.29 years; median age, 10 years) with male to female ratio of 1.5:1. Nearly 45% of children were above 10 years of age...
March 2023: Journal of the Association of Physicians of India
https://read.qxmd.com/read/37309846/folic-acid-importance-for-human-health-and-its-role-in-covid-19-therapy
#31
JOURNAL ARTICLE
Katarzyna Kurowska, Milena Kobylińska, Katarzyna Antosik
Folic acid (folacin, B9) is a vitamin that performs many very important functions in the human body, and its inadequate level - deficiency as well as excess, may contribute to an increased risk of developing many disease processes. The aim of this study was to analyze the available scientific literature on folic acid and its impact on human health. A systematic review of the studies, published until November 2022, was made on the basis of searching bibliographic databases such as: PubMed, Elsevier and Google Scholar...
2023: Roczniki Państwowego Zakładu Higieny
https://read.qxmd.com/read/37299560/clinical-pathobiochemistry-of-vitamin-b-12-deficiency-improving-our-understanding-by-exploring-novel-mechanisms-with-a-focus-on-diabetic-neuropathy
#32
REVIEW
Erwin Schleicher, Triantafyllos Didangelos, Evangelia Kotzakioulafi, Alexander Cegan, Andreas Peter, Konstantinos Kantartzis
Vitamin B12 (B12 ) is an essential cofactor of two important biochemical pathways, the degradation of methylmalonic acid and the synthesis of methionine from homocysteine. Methionine is an important donor of methyl groups for numerous biochemical reactions, including DNA synthesis and gene regulation. Besides hematological abnormalities (megaloblastic anemia or even pancytopenia), a deficiency in B12 may cause neurological symptoms, including symptoms resembling diabetic neuropathy. Although extensively studied, the underlining molecular mechanism for the development of diabetic peripheral neuropathy (DPN) is still unclear...
June 1, 2023: Nutrients
https://read.qxmd.com/read/37264109/cd36-relative-mean-fluorescence-intensity-of-cd105-nucleated-erythroid-cells-can-be-used-to-differentiate-myelodysplastic-syndrome-from-megaloblastic-anemia
#33
JOURNAL ARTICLE
Yan Lu, Xuya Chen, Longyi Zhang
This study aims to evaluate the differences in CD105+ nucleated erythroid cell (NEC) immunophenotypes between myelodysplastic syndrome (MDS) and megaloblastic anemia (MA) using multiparameter flow cytometry and to screen potential markers. We analyzed bone marrow sample data from 37 patients with MDS, 35 with MA, 53 with iron-deficiency anemia (anemic controls), and 35 without anemia (normal controls). Compared with normal controls, the MDS and MA groups showed a decrease in the proportion of CD117+ CD105+ NEC and the relative mean fluorescence intensity (RMFI) of CD71 in CD105+ NEC, accompanied by an increase in the coefficient of variation (CV) of CD71 and CD36...
June 1, 2023: Scientific Reports
https://read.qxmd.com/read/37263952/-changes-and-clinical-significance-of-erythrocyte-lifespan-in-megaloblastic-anemia
#34
JOURNAL ARTICLE
D P Wu, J Bai, S L Chu, Z D Hao, X J Guo, L S Zhang, L J Li
Objective: To investigate the lifespan of erythrocytes in megaloblastic anemia (MA) patients. Methods: A prospective cohort study analysis. Clinical data from 42 MA patients who were newly diagnosed at the Department of Hematology, Lanzhou University Second Hospital from January 2021 to August 2021 were analyzed, as were control data from 24 healthy volunteers acquired during the same period. The carbon monoxide breath test was used to measure erythrocyte lifespan, and correlations between erythrocyte lifespan and laboratory test indexes before and after treatment were calculated...
June 1, 2023: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://read.qxmd.com/read/37214872/systematic-review-of-treatment-of-beta-cell-monogenic-diabetes
#35
Rochelle N Naylor, Kashyap A Patel, Jarno Kettunen, Jonna M E Männistö, Julie Støy, Jacques Beltrand, Michel Polak, Tina Vilsbøll, Siri A W Greeley, Andrew T Hattersley, Tiinamaija Tuomi
BACKGROUND: Beta-cell monogenic forms of diabetes are the area of diabetes care with the strongest support for a precision medicine approach. We systematically reviewed treatment of hyperglycemia in GCK-related hyperglycemia, HNF1A-diabetes, HNF4A-diabetes, HNF1B-diabetes, Mitochondrial diabetes (MD) due to m.3243A>G variant, 6q24-transient neonatal diabetes (TND) and SLC19A2-diabetes (Thiamine-Responsive Megaloblastic Anemia, TRMA). METHODS: Systematic review with data sources from PubMed, MEDLINE and Embase were performed answering specific therapeutic questions for the different subtypes...
May 12, 2023: medRxiv
https://read.qxmd.com/read/37162701/pancytopenia-in-celiac-disease-a-case-series-of-20-children
#36
JOURNAL ARTICLE
Shailja Vajpayee, Raj Kumar Gupta, Alok Kumar Goyal, Dilip Ramrakhiani
Pancytopenia in children with celiac disease (CeD) is postulated to be due to nutritional deficiency such as vitamin B12 , folate and copper or an autoimmune process resulting in aplastic anemia with hypoplastic marrow. In the present case series, we report the profile and explore the etiology of pancytopenia among children with CeD. There are only a few case reports of pancytopenia in children with CeD. We enrolled newly diagnosed cases of CeD and pancytopenia presenting in the celiac disease clinic over three years...
April 2023: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://read.qxmd.com/read/37091967/a-challenging-diagnosis-for-thiamine-transporter-deficiency-anemia-rogers-syndrome-in-two-young-siblings-a-rare-case-report
#37
Yara Deeb, Nafiza Martini, Yara Ahmad Ahmad, Marwa Alkosti, Othman Hamdan
We present these two cases to emphasize the necessity of critical thinking and high suspicion of the disease (Rogers syndrome) to avoid potentially fatal situations due to its rarity and the importance of early treatment.
April 2023: Clinical Case Reports
https://read.qxmd.com/read/37081223/improving-the-diagnosis-of-myelodysplastic-syndrome-by-red-blood-cell-parameters
#38
JOURNAL ARTICLE
Ying Zhu, Suyang Han, Xue Chen, Sanyun Wu, Bei Xiong
PURPOSE: To investigate the value of red blood cell parameters in Myelodysplastic syndrome (MDS) diagnosis and their relations to MDS subtypes and risk groups. METHODS: The red blood cell parameter [mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red cell distribution width (RDW)] levels [203 MDS, 99 aplastic anemia (AA), 145 megaloblastic anemia (MA)] were collected from a single-center retrospective cohort...
April 21, 2023: Clinical & Translational Oncology
https://read.qxmd.com/read/37077076/effect-of-megaloblastic-anemia-on-hemoglobin-a-2-and-diagnosis-of-%C3%AE-thalassemia-trait
#39
JOURNAL ARTICLE
Sulagna Sahoo, Nageswar Sahu, Palash Das, Urmila Senapati
CONTEXT: β-thalassemia trait is usually diagnosed by raised hemoglobin A2 (HbA2 ). The presence of megaloblastic anemia can cause an increase in HbA2 and create a diagnostic dilemma. Here, we have analyzed the effect of vitamin B12 and folic acid supplementation on HbA2 and diagnosis of β-thalassemia trait in cases of megaloblastic anemia with raised HbA2 . MATERIALS AND METHODS: Cases of megaloblastic anemia with raised HbA2 on high-performance liquid chromatography (HPLC) were supplemented with vitamin B12 and folic acid...
2023: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/36999056/hereditary-orotic-aciduria-identified-by-newborn-screening
#40
JOURNAL ARTICLE
Orna Staretz-Chacham, Nadirah S Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H Korman, Shlomo Almashanu
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabilities, and crystalluria. Newborn screening has the potential to identify and enable treatment of affected individuals before they become significantly ill. Methods: Measuring orotic acid as part of expanded newborn screening using flow injection analysis tandem mass spectrometry...
2023: Frontiers in Genetics
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